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Title : Genotype-phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome - Thimm_2020_J.Peripher.Nerv.Syst__ |
Author(s) : Thimm A , Rahal A , Schoen U , Abicht A , Klebe S , Kleinschnitz C , Hagenacker T , Stettner M |
Ref : J Peripher Nerv Syst , : , 2020 |
Abstract : Thimm_2020_J.Peripher.Nerv.Syst__ |
ESTHER : Thimm_2020_J.Peripher.Nerv.Syst__ |
PubMedSearch : Thimm_2020_J.Peripher.Nerv.Syst__ |
PubMedID: 32077159 |
Gene_locus related to this paper: human-ABHD12 |